Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00585:Spata20'

4514

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata20

Ensembl Gene

ENSMUSG00000020867

Gene Name

spermatogenesis associated 20

Synonyms

Tisp78

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

IGL00585

Quality Score

Status

Chromosome

Chromosomal Location

94369730-94376136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 94369943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 784 (L784F)

Ref Sequence

ENSEMBL: ENSMUSP00000042572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021234] [ENSMUST00000041705]

AlphaFold

Q80YT5

Predicted Effect

probably benign
Transcript: ENSMUST00000021234

SMART Domains

Protein: ENSMUSP00000021234
Gene: ENSMUSG00000020866

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
Pfam:Ion_trans	119	394	9.2e-66	PFAM
low complexity region	483	507	N/A	INTRINSIC
low complexity region	535	547	N/A	INTRINSIC
Pfam:Ion_trans	777	963	7.9e-46	PFAM
low complexity region	1040	1051	N/A	INTRINSIC
low complexity region	1063	1090	N/A	INTRINSIC
low complexity region	1111	1127	N/A	INTRINSIC
low complexity region	1193	1204	N/A	INTRINSIC
Pfam:Ion_trans	1290	1514	3e-55	PFAM
coiled coil region	1519	1559	N/A	INTRINSIC
low complexity region	1562	1573	N/A	INTRINSIC
Pfam:Ion_trans	1630	1835	3e-49	PFAM
Pfam:PKD_channel	1688	1842	7.8e-11	PFAM
low complexity region	2180	2211	N/A	INTRINSIC
low complexity region	2230	2246	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000041705
AA Change: L784F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042572
Gene: ENSMUSG00000020867
AA Change: L784F

Domain	Start	End	E-Value	Type
Pfam:Thioredox_DsbH	66	228	2.9e-75	PFAM
Pfam:Thioredoxin_7	86	176	1.5e-13	PFAM
SCOP:d1fp3a_	464	686	8e-48	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151707

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,519,294 (GRCm39)	I664F	probably damaging	Het
Abcg4	A	T	9: 44,192,920 (GRCm39)	M142K	probably benign	Het
Afdn	A	G	17: 14,104,890 (GRCm39)	T1198A	probably damaging	Het
Angptl2	T	C	2: 33,136,239 (GRCm39)	S475P	probably damaging	Het
Ap3s2	T	C	7: 79,565,824 (GRCm39)	E34G	probably benign	Het
C1qtnf9	T	C	14: 61,017,442 (GRCm39)	F324S	probably damaging	Het
Cacng7	A	G	7: 3,414,547 (GRCm39)	Y170C	probably damaging	Het
Ceacam18	G	A	7: 43,286,435 (GRCm39)	V103M	possibly damaging	Het
Chrnb1	G	A	11: 69,684,742 (GRCm39)	P144S	probably damaging	Het
Chuk	T	C	19: 44,066,751 (GRCm39)	H652R	probably damaging	Het
Ckap5	C	T	2: 91,450,170 (GRCm39)	L1948F	probably damaging	Het
Clstn1	A	T	4: 149,722,769 (GRCm39)	H469L	probably benign	Het
Csf2rb2	C	T	15: 78,169,047 (GRCm39)	G594S	possibly damaging	Het
Ctsq	A	T	13: 61,184,941 (GRCm39)	D248E	probably benign	Het
Ep400	A	T	5: 110,903,771 (GRCm39)	I276K	possibly damaging	Het
Gbf1	G	A	19: 46,272,688 (GRCm39)		probably null	Het
Gldn	T	A	9: 54,245,748 (GRCm39)	I433N	probably damaging	Het
Gm136	T	A	4: 34,752,322 (GRCm39)	E69V	probably damaging	Het
Gm28177	T	C	1: 52,121,738 (GRCm39)		probably null	Het
Gtf2h2	A	G	13: 100,617,506 (GRCm39)		probably benign	Het
Ints12	T	C	3: 132,806,570 (GRCm39)		probably null	Het
Ltbp4	T	C	7: 27,026,158 (GRCm39)	D615G	probably damaging	Het
Mgme1	C	T	2: 144,113,909 (GRCm39)	P4S	probably benign	Het
Nae1	A	G	8: 105,252,910 (GRCm39)		probably null	Het
Nup133	G	A	8: 124,636,733 (GRCm39)	A956V	probably damaging	Het
Oacyl	T	A	18: 65,882,711 (GRCm39)	M529K	possibly damaging	Het
Osbpl1a	T	A	18: 12,890,683 (GRCm39)	E519V	possibly damaging	Het
Pacs1	A	T	19: 5,203,726 (GRCm39)	V333E	probably damaging	Het
Pik3c3	T	G	18: 30,436,131 (GRCm39)		probably benign	Het
Polh	C	T	17: 46,483,169 (GRCm39)		probably benign	Het
Ppp6r3	A	G	19: 3,540,826 (GRCm39)	C431R	probably damaging	Het
Pprc1	T	C	19: 46,051,087 (GRCm39)	S206P	possibly damaging	Het
Rab20	A	G	8: 11,504,212 (GRCm39)	Y163H	probably benign	Het
Sde2	T	A	1: 180,683,383 (GRCm39)	C46S	possibly damaging	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Tnnt1	A	C	7: 4,510,549 (GRCm39)	M224R	possibly damaging	Het
Trank1	T	C	9: 111,178,358 (GRCm39)	F349L	possibly damaging	Het
Ttf1	T	C	2: 28,963,895 (GRCm39)		probably benign	Het
Usp54	T	A	14: 20,623,905 (GRCm39)	S651C	probably damaging	Het
Vps45	A	G	3: 95,907,378 (GRCm39)	*571R	probably null	Het
Yod1	G	A	1: 130,646,870 (GRCm39)	G249E	probably damaging	Het
Ythdc2	A	G	18: 44,997,428 (GRCm39)	Y340C	probably damaging	Het
Zfp366	G	A	13: 99,383,080 (GRCm39)		probably benign	Het
Zfp648	T	A	1: 154,079,935 (GRCm39)	D31E	possibly damaging	Het

Other mutations in Spata20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Spata20	APN	11	94,374,221 (GRCm39)	missense	probably benign
IGL02008:Spata20	APN	11	94,374,289 (GRCm39)	missense	probably damaging	1.00
PIT4458001:Spata20	UTSW	11	94,375,434 (GRCm39)	missense	probably damaging	1.00
R0136:Spata20	UTSW	11	94,371,435 (GRCm39)	missense	probably damaging	1.00
R0243:Spata20	UTSW	11	94,372,472 (GRCm39)	missense	probably benign
R0557:Spata20	UTSW	11	94,376,048 (GRCm39)	missense	probably benign	0.00
R0657:Spata20	UTSW	11	94,371,435 (GRCm39)	missense	probably damaging	1.00
R1712:Spata20	UTSW	11	94,371,340 (GRCm39)	missense	probably benign
R2166:Spata20	UTSW	11	94,369,930 (GRCm39)	missense	probably benign	0.25
R4298:Spata20	UTSW	11	94,373,914 (GRCm39)	missense	probably damaging	0.99
R4740:Spata20	UTSW	11	94,375,404 (GRCm39)	missense	possibly damaging	0.94
R4791:Spata20	UTSW	11	94,375,412 (GRCm39)	missense	probably damaging	0.99
R4980:Spata20	UTSW	11	94,375,435 (GRCm39)	missense	probably damaging	1.00
R5894:Spata20	UTSW	11	94,374,444 (GRCm39)	missense	probably damaging	0.98
R6373:Spata20	UTSW	11	94,374,226 (GRCm39)	missense	probably benign
R7400:Spata20	UTSW	11	94,374,226 (GRCm39)	missense	probably benign
R7439:Spata20	UTSW	11	94,374,867 (GRCm39)	missense	probably benign	0.02
R7441:Spata20	UTSW	11	94,374,867 (GRCm39)	missense	probably benign	0.02
R7562:Spata20	UTSW	11	94,373,379 (GRCm39)	missense	probably benign	0.31
R7974:Spata20	UTSW	11	94,374,966 (GRCm39)	missense	possibly damaging	0.66
R8036:Spata20	UTSW	11	94,369,963 (GRCm39)	missense	probably benign	0.17
R8060:Spata20	UTSW	11	94,373,065 (GRCm39)	missense	probably benign
R8335:Spata20	UTSW	11	94,373,369 (GRCm39)	missense	probably benign	0.05
R8447:Spata20	UTSW	11	94,373,080 (GRCm39)	missense	probably damaging	1.00
R8676:Spata20	UTSW	11	94,372,607 (GRCm39)	missense	probably damaging	1.00
R9492:Spata20	UTSW	11	94,374,444 (GRCm39)	missense	probably damaging	0.98
Z1176:Spata20	UTSW	11	94,371,361 (GRCm39)	missense	probably benign	0.45
Z1177:Spata20	UTSW	11	94,373,965 (GRCm39)	missense	probably benign	0.00

Posted On

2012-04-20